For purposes of this invention, the term “skin” is meant to refer to dermis and epidermis, as well as mucosal membranes.
Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes after minor trauma, with an incidence of 1/50,000. It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.
Epidermolysis bullosa simplex is a form of EB that causes blisters at the site of rubbing. It typically affects the hands and feet, and is typically inherited in an autosomal dominant manner, affecting the keratin genes KRT5 and KRT14.
Junctional epidermolysis bullosa is an inherited disease affecting laminin and collagen. This disease is characterized by blister formation within the lamina lucida of the basement membrane zone and is inherited in an autosomal recessive manner. It also presents with blisters at the site of friction, especially on the hands and feet, and has variants that can occur in children and adults.
Dystrophic epidermolysis bullosa (DEB) is an inherited variant affecting the skin and other organs. “Butterfly children” is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as a butterfly's wings. DEB is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII). DEB-causing mutations can be either autosomal dominant or autosomal recessive.
EB produces blisters or vesicles on the skin which contains serohematic fluid. When these blisters burst they produce injuries similar to burns that evolve, producing multiple scars and retractions of the skin which cause functional disabilities such as pseudosyndactyle, among others. Injuries also appear in membranes and mucosal membranes generating complications through the gastrointestinal tract which causes malnutrition, making healing even harder.
A characteristic of EB is the pronounced fragility of the skin and mucosal areas that lead to the formation of blisters and ulcers in response to minor traumas. The more exposed areas of skin are the ones affected by frequent friction or pressure. The peribuccal tissue, skin and mucous of lips or cheeks are specially affected because they are constantly exposed to chewing trauma. The ulcers produced in the peribuccal area during the chewing process generate scars and the tissues retract causing microustomya, until patients cannot open their mouths.
Even though the complete spectrum of clinical signs is wide: blisters, itching, skin erosions, atrophic scars, hyperqueratosis and ulcers are the main skin expressions of this disease.
Simple EB is diagnosed at birth; its main characteristic is the formation of blisters after a traumatic event, frequently in the palms of the hands, elbows, and soles of the feet. Blisters could be flaccid and when they burst they leave a melceric scab. Blisters are of erythematous base due to friction, and exacerbated by perspiration and excessive heat.
Joint EB presents blisters of generalized distribution, hyperplasic granulation tissue in the perioral, perinasal and groin regions or in the locations of the blisters. It affects the mucous of the mouth (intraoral vesicles) larynx, bronchus, esophagus, recto and vagina. Extended denudated areas in places of friction. Combination of chronic infections and loose of iron through the skin can turn into a chronic anemia.
Dystrophic EB presents blisters, either localized or generalized; when they disappear they leave dystrophic scars. Big denudated skin areas could be seen in places like the thorax. Blisters appear spontaneously in any place, being more frequent in friction areas. In addition, they could suffer from pseudosindactilia. Among complications they may suffer Espino cellular aggressive carcinoma. The formation of vesicles all over the body may result in the loss of body fluids, electrolytes, blood and proteins; dehydration, anemia and slow growth.
Known methods of treatment for EB are only partially effective. They focus on treating the pain and bacterial infections associated with injuries of the skin, but no definitive treatment exists today. The known treatments are symptomatic and palliative, focusing on preventing the development of injuries and their complications, e.g., draining blisters, using creams containing antibiotics, antiseptic agents and silicone patches. These prior art treatments do not provide a satisfactory therapeutic effect. For instance, when gauze dressings or silicone bandages are pulled off they may cause some harm to healthy skin around the wounds due to their adherence level, and leave suppuration in the area that must be removed by mechanical means (e.g., cleaning them with gauze), which slows the healing process.
Finding a treatment that can provide proper healing of the injuries produced by EB is a challenge that medical science has not achieved.
The present invention provides a non-toxic topical ointment based on natural ingredients which can provide high therapeutic efficiency for the injuries described above and diminish the many complications of EB.
A topical ointment for treating injuries and skin disorders is disclosed in U.S. Pat. No. 7,357,923 (Vasquez Lipi) for the treatment of a wide variety of skin injuries which is suitable for use on mucous surfaces. This ointment is composed of an oleaginous base, olive oil, sunflower oil, almond oil, castor oil, mineral oil and virgin beeswax as primary ingredients.